Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from Parkinson’s Disease Patient with  c.1000G&gt;A  Mutation in  LRRK2  Gene

E. V. Grigor’eva; Григорьева Е. В.; L. V. Kovalenko; Коваленко Л. В.; J. A. Rzaev; Рзаев Дж. А.; E. A. Khabarova; Хабарова Е. А.; Y. V. Vyatkin; Вяткин Ю. В.; J. M. Minina; Минина Ю. М.; S. P. Medvedev; Медведев С. П.; A. A. Malakhova; Малахова А. А.; S. V. Pavlova; Павлова С. В.; S. M. Zakian; Закиян С. М.

doi:10.31857/S0475145023010068

Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from Parkinson’s Disease Patient with c.1000G>A Mutation in LRRK2 Gene

Авторлар: Grigor’eva E.V.¹^,2^,3, Kovalenko L.V.⁴, Rzaev J.A.⁵, Khabarova E.A.¹^,5, Vyatkin Y.V.⁶, Minina J.M.¹, Medvedev S.P.¹^,2^,3, Malakhova A.A.¹^,2^,3, Pavlova S.V.¹^,2^,3, Zakian S.M.¹^,2^,3
Мекемелер:
1. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
2. Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation
3. Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences
4. Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut State University”
5. FSBI Federal Neurosurgical Center
6. Novosibirsk State University
Шығарылым: Том 54, № 1 (2023)
Беттер: 87-95
Бөлім: Collection of pluripotent stem cell lines
URL: https://journals.rcsi.science/0475-1450/article/view/137046
DOI: https://doi.org/10.31857/S0475145023010068
EDN: https://elibrary.ru/FRFNVG
ID: 137046

Дәйексөз келтіру

Толық мәтін

Ашық рұқсат
Рұқсат жабық

Рұқсат берілді
Рұқсат жабық

Тек жазылушылар үшін

Аннотация

The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease development pathology. We have analyzed clinical exome of a Parkinson’s disease patient and identified single-nucleotide variations in the LRRK2 (c.1000G>A, c.2167A>G) and PINK1 (c.1562A>C) genes. The LRRK2:c.1000G>A mutation has uncertain clinical significance, and is interesting for further investigation. We generated induced pluripotent stem cells (IPSCs) from PBMCs of the patient by a non-integrating episomal vectors. IPSCs demonstrate typical morphology and normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60), and are able to produce derivatives of three germ layers.

Негізгі сөздер

Parkinson’s disease, induced pluripotent stem cells, polymorphisms, reprogramming

Авторлар туралы

E. Grigor’eva

Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences

Хат алмасуға жауапты Автор.
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8

Әдебиет тізімі

Choppa P.C., Vojdani A., Tagle C. et al. Multiplex PCR for the detection of Mycoplasma fermentans, M. hominis and M. penetrans in cell cultures and blood samples of patients with chronic fatigue syndrome // Mol. Cell Probes. 1998. V. 12. № 5. P. 301–308.
Cowan C.A., Klimanskaya I., McMahon J. et al. Derivation of embryonic stem-cell lines from human blastocysts // N. Engl. J. Med. 2004. V. 350. № 13. P. 1353–1356.
Grigor’eva E.V., Malankhanova T.B., Surumbayeva A. et al. Generation of GABAergic striatal neurons by a novel iPSC differentiation protocol enabling scalability and cryopreservation of progenitor cells // Cytotechnology. 2020. V. 72. № 5. P. 649–663.
Grigor’eva E.V., Kopytova A.E., Yarkova E.S., Pavlova S.V., Sorogina D.A., Malakhova A.A., Malankhanova T.B., Baydakova G.V., Zakharova E.Y., Medvedev S.P., Pchelina S.N., Zakian S.M. Biochemical characteristics of iPSC-derived dopaminergic neurons from N370S GBA variant carriers with and without Parkinson's disease // Int. J. Mol. Sci. 2023. 24(5). 4437. https://doi.org/10.3390/ijms24054437
Okita K., Yamakawa T., Matsumura Y. et al. An efficient nonviral method to generate integration-free human-induced pluripotent stem cells from cord blood and peripheral blood cells // Stem Cells. 2013. V. 31. № 3. P. 458–466.

Қосымша файлдар

Әрекет

1. JATS XML

Жүктеу

Жүктеу (2MB)

Метадеректер

Пайдаланушының аты
Құпиясөз
Мені есте сақтау

Құпия сөзді ұмыттыңыз ба?	Тіркеу

Пайдаланушының аты
Құпиясөз
Мені есте сақтау

Құпия сөзді ұмыттыңыз ба?	Тіркеу

Том 56, № 1 (2025)

Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from Parkinson’s Disease Patient with c.1000G>A Mutation in LRRK2 Gene

Толық мәтін

Аннотация

Негізгі сөздер

Авторлар туралы

E. Grigor’eva

L. Kovalenko

J. Rzaev

E. Khabarova

Y. Vyatkin

J. Minina

S. Medvedev

A. Malakhova

S. Pavlova

S. Zakian

Әдебиет тізімі

Қосымша файлдар